Cargando…

Novel RS1 mutations associated with X-linked juvenile retinoschisis

To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the am...

Descripción completa

Detalles Bibliográficos
Autores principales:	YI, JUNHUI, LI, SHIQIANG, JIA, XIAOYUN, XIAO, XUESHAN, WANG, PANFENG, GUO, XIANGMING, ZHANG, QINGJIONG
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2012
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573736/ https://www.ncbi.nlm.nih.gov/pubmed/22245991 http://dx.doi.org/10.3892/ijmm.2012.882

Ejemplares similares

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
por: Fang, Shaohua, et al.
Publicado: (2008)

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia
por: Xiao, Xueshan, et al.
Publicado: (2016)

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese
por: Ji, Yanli, et al.
Publicado: (2010)

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
por: Xiao, Xueshan, et al.
Publicado: (2011)

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis
por: Skorczyk, Anna, et al.
Publicado: (2012)

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
por: Chen, Yabin, et al.
Publicado: (2013)

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
por: D’Souza, Leera, et al.
Publicado: (2013)

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
por: Zhang, Xiaohui, et al.
Publicado: (2009)

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
por: Xiao, Xueshan, et al.
Publicado: (2011)

A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly
por: Jia, Xiuhua, et al.
Publicado: (2010)

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene
por: Li, Xiaoxin, et al.
Publicado: (2007)

Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011)

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
por: Wang, Juan, et al.
Publicado: (2010)

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
por: Yang, Huiqin, et al.
Publicado: (2012)

CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene
por: Langmann, Thomas, et al.
Publicado: (2008)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
por: Kondo, Hiroyuki, et al.
Publicado: (2019)

An evaluation of OPTC and EPYC as candidate genes for high myopia
por: Wang, Panfeng, et al.
Publicado: (2009)

Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies
por: Wang, Qin, et al.
Publicado: (2011)

Juvenile X-linked retinoschisis responsive to intravitreal corticosteroids
por: Ansari, Waseem H., et al.
Publicado: (2016)

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis
por: Chen, Jieqiong, et al.
Publicado: (2014)

Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation
por: Chen, Ding, et al.
Publicado: (2018)

Sequence variations of GRM6 in patients with high myopia
por: Xu, Xiaoyu, et al.
Publicado: (2009)

Evaluation of MFRP as a candidate gene for high hyperopia
por: Wang, Panfeng, et al.
Publicado: (2009)

Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis
por: Suganthalakshmi, Balasubbu, et al.
Publicado: (2007)

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma
por: Jiang, Dan, et al.
Publicado: (2013)

A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis
por: Zhang, Na, et al.
Publicado: (2021)

X-Linked Retinoschisis in Juveniles: Follow-Up by Optical Coherence Tomography
por: Hu, Qin-rui, et al.
Publicado: (2017)

R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family
por: Xu, Jun, et al.
Publicado: (2010)

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
por: Li, Lin, et al.
Publicado: (2011)

Non-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset
por: Zheng, Yuxi, et al.
Publicado: (2023)

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection
por: Ouyang, Jiamin, et al.
Publicado: (2019)

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia
por: Li, Jiali, et al.
Publicado: (2016)

Mutation analysis of 12 genes in Chinese families with congenital cataracts
por: Sun, Wenmin, et al.
Publicado: (2011)

X-linked retinoschisis
por: Dubey, Devashish, et al.
Publicado: (2020)

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
por: Sun, Wenmin, et al.
Publicado: (2011)

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis
por: Xin, Wei, et al.
Publicado: (2015)

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia
por: Wang, Qin, et al.
Publicado: (2010)

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis
por: Lesch, B., et al.
Publicado: (2008)

Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis
por: Lee, Jong Joo, et al.
Publicado: (2009)

Outcome measures in juvenile X-linked retinoschisis: A systematic review
por: Grigg, John R., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_g6kfakc4me3qtmrjsljdsnglh7